From protein uptake to Dent disease: An overview of the CLCN5 gene.

Abstract

Proteinuria is a well-known risk factor, not only for renal disorders, but also for several other problems such as cardiovascular diseases and overall mortality. In the kidney, the chloride channel Cl-/H+ exchanger ClC-5 encoded by the CLCN5 gene is actively involved in preventing protein loss. This action becomes evident in patients suffering from the rare proximal tubulopathy Dent disease because they carry a defective ClC-5 due to CLCN5 mutations. In fact, proteinuria is the distinctive clinical sign of Dent disease, and mainly involves the loss of low-molecular-weight proteins. The identification of CLCN5 disease-causing mutations has greatly improved our understanding of ClC-5 function and of the ClC-5-related physiological processes in the kidney. This review outlines current knowledge regarding the CLCN5 gene and its protein product, providing an update on ClC-5 function in tubular and glomerular cells, and focusing on its relationship with proteinuria and Dent disease.

• Authors: Lisa Gianesello, Dorella Del Prete, Monica Ceol, Giovanna Priante, Lorenzo Arcangelo Calò, Franca Anglani
• Journal: Gene (Gene) Vol. 747 Pg. 144662 (Jul 15 2020) ISSN: 1879-0038 [Electronic] Netherlands
• PMID: 32289351 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2020 Elsevier B.V. All rights reserved.

Chemical References

• CLC-5 chloride channel
• Chloride Channels

Topics

• Animals
• Chloride Channels (chemistry, genetics, metabolism)
• Dent Disease (genetics, pathology)
• Endocytosis
• Humans
• Kidney (metabolism)
• Mutation (genetics)
• Phenotype